Endocrine Abstracts

Background: National paediatric diabetes audit (NPDA) provides comparative data for local paediatric diabetes units (PDUs) on key care processes and overall HbA1c. More detailed analysis on other variables affecting HbA1c is undertaken at a national level, but not at an individual PDU level.Objective: To determine the factors influencing glycaemic control (HbA1c levels) in young children and adolescents with Type 1 Diabetes Mellitus (T1DM).<p class="...

Background: Diabetic ketoacidosis (DKA) is a common presentation of newly diagnosed type 1 diabetes (T1DM) in children but increases the disease burden at diagnosis. In UK, average frequency of DKA presentation is reported as 25% with an international variation of 16 to 67%. Data on frequency variations within the UK is limited.Aim: To compare the demographic and clinical characteristics of DKA vs non-DKA presentations in children <16 years at diagno...

The immune dysregulation, polyendocrinopathy and enteropathy, X-linked syndrome (IPEX), is a rare and devastating condition of male infants. Immune mediated diabetes and enteropathy occur before 6 months of age and other manifestations include hypothyroidism, recurrent infections and eczema. In 2001, IPEX was mapped to Xp11, an orthologous region to that for the murine model of T cell dysregulation, scurfy, and mutations in the forkhead transcription factor gene, FOXP3,...

Background: Prader-Willi syndrome (PWS) is a complex genetic disorder caused by lack of expression of paternally inherited imprinted genes on Chr15q11-q13. rhGH has beneficial effects on growth, body composition and development. Starting age, dose titration and monitoring remain controversial.Objective: To study retrospectively children who presented in our multidisciplinary PWS clinic and assess response to rhGH treatment in terms of auxology, IGF1 conc...

Background and aim: Achondroplasia (ACH) is one of the commonest skeletal dysplasias affecting 1:15 000–1:40 000 live births. The average attained adult height is 131±5.6 cm for men and 124±5.9 cm for women. Previous studies have shown that the use of rhGH may result in transient increase in the growth rate, but there have been no long-term data regarding adult height. We aimed to study a cohort of patients with ACH and other skeletal dysplasias who have been tr...

Introduction: Continuous Subcutaneous Insulin Infusion (CSII) has several advantages over Multiple Daily Injections (MDI) including better hourly delivery and avoidance of injections. However usage of CSII is significantly less in Cystic Fibrosis Related Diabetes (CFRD) compared to type 1 diabetes and published literature on use of CSII in children and adolescents with CFRD is minimal.We report two cases where CSII was used in CFRD resulting in a lower T...

J Mol Endocrinol October 1, 2015 55 81–94. DOI: 10.1530/JME-15-0119...

Background: PWS is a rare neurodevelopmental genetic disorder characterized by hyperphagia, obesity, hormonal deficiencies, and problem behaviors for which there are no approved treatment. DCCR administration (100-525 mg/day) up to 52 weeks in participants with PWS improved hyperphagia, behavior, body composition and metabolic markers.Objective: The objective of this study was to compare changes in hyperphagia (using Hyperphagia Questionnaire for Clinica...

Background: Prader-Willi syndrome (PWS), a rare genetic neurobehavioral-metabolic condition, is characterized by hyperphagia, accumulation of excess fat, hypotonia, and behavioral/psychological complications. There are no currently approved medications to treat hyperphagia in patients with PWS; DCCR is under development as a treatment for PWS.Objectives and Methods: The objective was to evaluate long-term safety of DCCR in individuals with PWS. 125 parti...

With the changes in laboratory techniques affecting many disciplines, this is a short introduction to the variety of sales-based careers available in the UK biotechnology sector. The talk incorporates different companies, changing market trends and products and my own 'out of laboratory' experience of working in the biotech commercial world. Currently I work for Silicon Genetics, an American company with a small European operation based in the UK. I am their UK Regional Sales ...